Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

• Published in: Human mutation Vol. 26; no. 3; pp. 205 - 213
• Main Authors: Ball, Edward V., Stenson, Peter D., Abeysinghe, Shaun S., Krawczak, Michael, Cooper, David N., Chuzhanova, Nadia A.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.09.2005; John Wiley & Sons, Inc
• Subjects: complexity analysis; Computational Biology - methods; Databases, Genetic; DNA polymerase; DNA-Directed DNA Polymerase - genetics; Gene Deletion; Genes; Genetic Diseases, Inborn - genetics; Genetic disorders; Genetic Variation; Humans; inherited disease; meta-analysis; microdeletion; microinsertion; Mutagenesis; Mutation; mutation hotspots; Repetitive Sequences, Nucleic Acid; Sequence Analysis, DNA - methods; United Kingdom > UK

In the Human Gene Mutation Database (www.hgmd.org), microdeletions and microinsertions causing inherited disease (both defined as involving ≤20 bp of DNA) account for 8,399 (17%) and 3,345 (7%) logged mutations, in 940 and 668 genes, respectively. A positive correlation was noted between the microde...